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    ANKRD16 ankyrin repeat domain 16 [ Homo sapiens (human) ]

    Gene ID: 54522, updated on 15-Jun-2019

    Summary

    Official Symbol
    ANKRD16provided by HGNC
    Official Full Name
    ankyrin repeat domain 16provided by HGNC
    Primary source
    HGNC:HGNC:23471
    See related
    Ensembl:ENSG00000134461 MIM:618017
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in testis (RPKM 3.6), ovary (RPKM 2.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ANKRD16 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (5861726..5889897, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5903593..5931860, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene GDP dissociation inhibitor 2 Neighboring gene nuclear receptor binding factor 2 pseudogene 5 Neighboring gene tRNA-Val (anticodon TAC) 3-1 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene F-box DNA helicase 1 Neighboring gene uncharacterized LOC105376384 Neighboring gene uncharacterized LOC107984200 Neighboring gene interleukin 15 receptor subunit alpha

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    tRNA modification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 16

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001009941.2NP_001009941.1  ankyrin repeat domain-containing protein 16 isoform a

      See identical proteins and their annotated locations for NP_001009941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AA431197, AL137186, BC062346
      Consensus CDS
      CCDS31136.1
      UniProtKB/Swiss-Prot
      Q6P6B7
      Related
      ENSP00000369434.4, ENST00000380092.8
      Conserved Domains (2) summary
      cd00204
      Location:37157
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:172202
      ANK; ANK repeat [structural motif]
    2. NM_001009943.2NP_001009943.1  ankyrin repeat domain-containing protein 16 isoform c

      See identical proteins and their annotated locations for NP_001009943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AA431197, AI738771, AL137186, BC062346
      Consensus CDS
      CCDS31137.1
      UniProtKB/Swiss-Prot
      Q6P6B7
      Related
      ENSP00000352361.6, ENST00000191063.8
      Conserved Domains (4) summary
      cd00204
      Location:37157
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:41134
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:137191
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:172202
      ANK; ANK repeat [structural motif]
    3. NM_019046.3NP_061919.1  ankyrin repeat domain-containing protein 16 isoform a

      See identical proteins and their annotated locations for NP_061919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AL137186, AL137614, AL596094, BC017324, BC062346
      Consensus CDS
      CCDS31136.1
      UniProtKB/Swiss-Prot
      Q6P6B7
      Related
      ENSP00000369436.4, ENST00000380094.10
      Conserved Domains (2) summary
      cd00204
      Location:37157
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:172202
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      5861616..5889897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001009942.2: Suppressed sequence

      Description
      NM_001009942.2: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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